Variant report

Variant	rs1974786
Chromosome Location	chr5:112074722-112074723
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112041577..112049243-chr5:112069735..112074802,8	K562	blood:
2	chr5:112041940..112044616-chr5:112073343..112075090,3	MCF-7	breast:
3	chr5:112041486..112046402-chr5:112068342..112076365,12	K562	blood:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10051624	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10071425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10072068	0.85[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10073398	0.84[EUR][1000 genomes]
rs10075281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10075323	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10075377	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10076641	0.80[EUR][1000 genomes]
rs10213844	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10477483	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11241182	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11241183	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11241184	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11241185	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11749701	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11954856	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs12332692	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12513787	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12513804	0.84[CEU][hapmap]
rs12518091	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12658609	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12659119	0.86[EUR][1000 genomes]
rs13156251	0.85[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13173990	0.85[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap]
rs1441367	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1465910	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1530256	0.88[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17285505	0.84[EUR][1000 genomes]
rs1816769	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs1866924	0.84[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1914	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1968557	0.83[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2019720	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2020383	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2099810	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2229992	0.94[CHB][hapmap]
rs2251913	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2253987	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2289484	0.88[CEU][hapmap];0.94[CHB][hapmap];0.91[EUR][1000 genomes]
rs2431239	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2431241	0.96[CEU][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2431242	0.84[EUR][1000 genomes]
rs2431512	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2439589	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2439595	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs2464803	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2545156	0.83[CEU][hapmap]
rs2545158	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2546106	0.96[CEU][hapmap];0.87[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2546107	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2546108	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2546110	0.94[CHB][hapmap]
rs2546112	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs2546117	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2707763	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2707765	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28373740	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28578275	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2901844	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2909786	0.88[CEU][hapmap]
rs2909787	0.88[CEU][hapmap]
rs2909958	0.88[CEU][hapmap]
rs3317	0.83[CEU][hapmap]
rs35130225	0.85[EUR][1000 genomes]
rs351768	0.80[CEU][hapmap]
rs351772	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35414976	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs368575	0.83[CEU][hapmap]
rs374613	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs382427	0.80[CEU][hapmap];0.82[CHB][hapmap]
rs3846716	0.88[CEU][hapmap]
rs390092	0.82[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs395858	0.81[CHB][hapmap]
rs396321	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs4099181	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs41116	0.84[EUR][1000 genomes]
rs414098	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs419155	0.83[CEU][hapmap]
rs448162	0.81[CHB][hapmap]
rs448475	0.84[EUR][1000 genomes]
rs454886	0.87[CHB][hapmap]
rs458906	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs460137	0.83[CEU][hapmap]
rs467033	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs469886	0.84[CEU][hapmap]
rs4705486	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705559	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705573	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705608	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705609	0.82[EUR][1000 genomes]
rs4705610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4705624	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs511906	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs518013	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs548710	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs566419	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs62364017	0.88[EUR][1000 genomes]
rs6594646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6862050	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6864688	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs6867243	0.85[EUR][1000 genomes]
rs6879057	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6894351	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs6898133	0.84[CEU][hapmap]
rs7704618	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7727738	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs818428	0.80[CEU][hapmap]
rs818797	0.84[CEU][hapmap]
rs861674	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs9326862	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs9326863	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs953916	0.81[ASN][1000 genomes]
rs9647582	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9647583	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112072800-112074800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:112072800-112074800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:112072800-112075000	Active TSS	Fetal Brain Male	brain
4	chr5:112072800-112075000	Active TSS	Fetal Brain Female	brain
5	chr5:112072800-112076400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:112073000-112074800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:112073000-112075000	Active TSS	Brain Anterior Caudate	brain
8	chr5:112073000-112075200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:112073000-112075400	Active TSS	NHDF-Ad	bronchial
10	chr5:112073000-112075600	Active TSS	Brain Hippocampus Middle	brain
11	chr5:112073000-112075800	Active TSS	Brain Substantia Nigra	brain
12	chr5:112073000-112076200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr5:112073000-112076200	Active TSS	NHLF	lung
14	chr5:112073200-112075200	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr5:112073200-112076600	Active TSS	Brain Cingulate Gyrus	brain
16	chr5:112073800-112075400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:112073800-112075400	Flanking Active TSS	HUVEC	blood vessel
18	chr5:112073800-112086800	Weak transcription	Gastric	stomach
19	chr5:112074000-112074800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:112074000-112074800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr5:112074000-112075600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:112074000-112095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:112074200-112074800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:112074200-112074800	Enhancers	Primary hematopoietic stem cells	blood
25	chr5:112074200-112075000	Enhancers	Liver	Liver
26	chr5:112074200-112075000	Weak transcription	Stomach Mucosa	stomach
27	chr5:112074200-112075200	Enhancers	Fetal Heart	heart
28	chr5:112074200-112075200	Weak transcription	Lung	lung
29	chr5:112074200-112075200	Flanking Active TSS	NH-A	brain
30	chr5:112074200-112076000	Active TSS	K562	blood
31	chr5:112074200-112077600	Weak transcription	Primary T cells from cord blood	blood
32	chr5:112074200-112078800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:112074200-112079600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr5:112074200-112081400	Weak transcription	Esophagus	oesophagus
35	chr5:112074200-112083800	Weak transcription	Ovary	ovary
36	chr5:112074200-112084400	Weak transcription	Pancreas	Pancrea
37	chr5:112074200-112093200	Weak transcription	Aorta	Aorta
38	chr5:112074400-112074800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr5:112074400-112074800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:112074400-112074800	Active TSS	HMEC	breast
41	chr5:112074400-112075000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:112074400-112075200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:112074400-112075200	Enhancers	Adipose Nuclei	Adipose
44	chr5:112074400-112075200	Active TSS	GM12878-XiMat	blood
45	chr5:112074400-112075400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:112074400-112075400	Enhancers	Rectal Smooth Muscle	rectum
47	chr5:112074400-112076000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr5:112074400-112076000	Active TSS	Brain Angular Gyrus	brain
49	chr5:112074400-112076600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:112074400-112077000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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